عنوان

JIMD Reports.

3642373283 (electronic bk.)

9783642373282 (electronic bk.)

9783642373275

b434991

JIMD Reports.

[Book]

Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor

Volume 11 /

1 online resource (vii, 172 pages) :

illustrations (some color)

JIMD reports,

v.11

2192-8304 ;

Includes bibliographical references

Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment -- Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency -- A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing -- Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures -- Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia -- Motor and Speech Disorders in Classic Galactosemia -- Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation -- Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in a-Mannosidosis -- Early Cardiac Changes in Children with Anderson-Fabry Disease -- Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) -- Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis -- Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type -- Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate -- A Clinically Severe Variant of ß-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus -- A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome -- Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects -- Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases -- Spondyloepiphyseal Dysplasias and Bilateral Legg-Calveʹ-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses -- Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect -- Socio-emotional Problems in Children with CDG -- Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family -- Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan

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JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder

OhioLINK electronic book center (Online)

SpringerLink

Metabolism, Inborn errors of-- Research

Metabolism, Inborn Errors

HEA-- 039000

MED-- 014000

MED-- 022000

MED-- 045000

MED-- 112000

Brown, Garry

Gibson, K. Michael

Morava, Eva

Peters, Verena

Zschocke, Johannes

Ohio Library and Information Network

20160427145854.0

pn

[Book]

Y